We're a fast growing community for individuals and families with rare genetic diseases. Come and be encouraged by others with stories like your own.
If you would like to join us as a volunteer editor and help keep our pages up to date please navigate to our volunteer page.
Leigh syndrome is a rare inherited neurodegenerative condition that affects at least 1 in 40,000 newborns. It most often occurs in infants before 2 years of age, but late-onset Leigh syndrome has also been reported. Leigh syndrome is characterized by almost identical brain changes: focal, bilateral symmetric lesions associated with demyelination, vascular proliferation and gliosis. It can be classified into three categories according to the mode of inheritance: Mitochondrial-DNA Associated (Maternally-inherited), Autosomal Recessive, and X-linked.